(Q80510524)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

congenital disorder of glycosylation type Ia

1 January 2020

main subject

0 references

1 reference

1 reference

1

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1 January 2020

author name string

D Bostock

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

M Hunter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

P Kannu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

M Irving

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

V Mayne

6

1 reference

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1 January 2020

M Fietz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

J Jaeken

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

R Savarirayan

9

1 reference

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1 January 2020

publication date

1 February 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

1 January 2020

published in

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1 January 2020

volume

146A

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1 January 2020

issue

3

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1 January 2020

page(s)

389-392

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1 January 2020

Identifiers

DOI

10.1002/AJMG.A.32119

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203160%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference